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Iranian Journal of Pediatric Hematology and Oncology، جلد ۳، شماره ۴، صفحات ۱۷۳-۱۷۵
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عنوان انگلیسی Gaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report
چکیده انگلیسی مقاله Background Gaucher’s Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher’s Disease .G.D is rare in Yazd. Case reports We reported a patient that presented with weakness, pallor and gradually increasing abdominal girth. Clinical examination and history pointed to be a lipid storage disease. Final diagnosis of G.D. was reported after examining the bone marrow smears. Confirmation of diagnosis on Gaucher’s disease was performed by measurement of glucocerebrosidase level. Conclusion We report a case of G.D. to emphasize the importance of early recognition by clinical manifestation and histological findings. G.D. should be considered in the differential diagnosis of children with unexplained splenomegaly.
کلیدواژه‌های انگلیسی مقاله Gaucher Disease, Splenomegaly, Diagnosis
نویسندگان مقاله f بینش | f binesh
associate professor of pathology,shahid sadoughi university of medical sciences,yazd,iran.


a یوسفی | a yousefi
assistant professor of pediateric disease, shahid sadoughi university of medical sciences,yazd,iran.


m اردویی | m ordooei
assistant professor of pediateric disease, shahid sadoughi university of medical sciences,yazd,iran.


ma باقری نسب | ma bagherinasab
general practitioner, shahid sadoughi university of medical sciences,yazd,iran.
نشانی اینترنتی http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-58-4&slc_lang=en&sid=en
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